E43Q (p.Glu43Gln) variant of FLCN (Folliculin)
E43Q (p.Glu43Gln) in FLCN (Folliculin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- Ensembl rs1555611494
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available